HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128344394T>G , CM000667.2:g.128344394T>G | GRCh38 |
NC_000005.9:g.127680086T>G , CM000667.1:g.127680086T>G | GRCh37 |
NC_000005.8:g.127707985T>G | NCBI36 |
NG_008750.1:g.198650A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262464.9:c.3334A>C MANE Select | ENSP00000262464.4:p.Asn1112His | |
ENST00000262464.8:c.3334A>C | ENSP00000262464.4:p.Asn1112His | |
ENST00000508053.5:c.3334A>C | ENSP00000424571.1:p.Asn1112His | |
ENST00000508989.5:c.3235A>C | ENSP00000425596.1:p.Asn1079His | |
ENST00000619499.4:c.3331A>C | ENSP00000482132.1:p.Asn1111His | |
NM_001999.3:c.3334A>C | NP_001990.2:p.Asn1112His | |
XM_017009228.2:c.3181A>C | XP_016864717.1:p.Asn1061His | |
NM_001999.4:c.3334A>C MANE Select | NP_001990.2:p.Asn1112His |